The inherited bone marrow failure syndromes: Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemia

Reviews in Clinical and Experimental Hematology

Volumn 4, Issue 3, 2000, Pages 183-215

  Dokal, Inderjeet ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

RIBOSOME PROTEIN; RIBOSOME RNA;

APLASTIC ANEMIA; BLACKFAN DIAMOND ANEMIA; BONE MARROW DEPRESSION; CLINICAL FEATURE; DISEASE CLASSIFICATION; DYSKERATOSIS CONGENITA; FANCONI ANEMIA; GENE IDENTIFICATION; GENETIC HETEROGENEITY; GENETIC STABILITY; HEMATOPOIESIS; HUMAN; PROTEIN FUNCTION; REVIEW;

EID: 0034261039     PISSN: 11270020     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1468-0734.2000.00015.x     Document Type: Review

References (132)

1. Young NS and Alter BP. Aplastic Anemia. Acquired and Inherited, W.B. Saunders, Philadelphia, 1994.
2. Fanconi G. Familial constitutional panmyelocytopathy, Fanconi's anemia (FA) I. Clinical aspects. Semin Hematol, 4: 233-240, 1967.
3. Auerbach AD, Buchwald M, Joenje H, Fanconi anemia. In: The Genetic Basis of Human Cancer, Vogelstein B and Kinzler KW (eds). McGraw-Hill, New York, pp. 317-332, 1998.
4. Alter BP. Fanconi's anaemia and its variability. Br J Haematol, 85: 9-14, 1993.
5. Gordon-Smith EC and Rutherford TR, Fanconi anaemia - Constitutional, familial aplastic anaemia. Baillieres Clin Haematol, 2: 139-152, 1989.
6. Auerbach AD and Allen RG. Leukemia and preleukemia in Fanconi anemia patients: A review of the literature and report of the Fanconi Anemia Registry. Cancer Genet Cytogenet, 51: 1-12, 1991.
7. Obeid DA, Hill FGH, Harnden D, et al. Fanconi anemia, oxymetholone hepatic tumors, and chromosome aberrations associated with leukemia transition. Cancer, 46: 1401-1404, 1980.
8. Deeg HJ, Socie G, Schoch G, et al. Malignancies after marrow transplantation for aplastic anemia: A joint Seattle and Paris analysis of results in 700 patients. Blood, 87: 386-392, 1996.
9. Gluckman E, Devergie A, Schaison G, et al. Bone marrow transplantation in Fanconi anaemia. Br J Haematol, 45: 557-564, 1980.
10. Berger R, Bernheim A, Gluckman E, et al. In vitro effect of cyclophosphamide metabolites on chromosomes of Fanconi anaemia patients. Br J Haematol, 45: 565-568, 1980.
11. Gluckman E, Devergie A, Dutreix J. Radiosensitivity in Fanconi anaemia: Application to the conditioning regimen for bone marrow transplantation. Br J Haematol, 54: 431-440, 1983.
12. Guardiola P, Socie G, Pasquini R, et al. Allogeneic stem cell transplantation for Fanconi anaemia. Bone Marrow Transplant, 21 (Suppl. 2): 24-27, 1998.
13. Guardiola Ph, Pasquini R, Dokal I, et al. Outcome of 69 allogeneic stem transplantations for Fanconi anemia using HLA-matched unrelated donors: A study on behalf of the European Group for Blood and Marrow Transplantation. Blood, 95: 422-429, 2000.
14. Socie G, Devergie A, Girinski T, et al. Transplantation for Fanconi's anaemia: Long-term follow-up of fifty patients transplanted from a sibling donor after low-dose cyclophosphamide and thoraco-abdominal irradiation for conditioning. Br J Haematol, 103: 249-255, 1998.
15. Dokal I and Roberts IAG. Bone marrow transplantation for Fanconi's anaemia: Conditioning with reduced doses of cyclophosphamide without radiation. Br J Haematol, 94: 423, 1996.
16. Schroeder TM, Ancschultz F, Knoff A. Spontane chromosomenaberrationen bei familiarer panmyelopathie. Humangenetik, 1: 194-196, 1964.
17. Sasaki MS and Tonomura A. A high susceptibility of Fanconi anemia to chromosomal breakage by DNA cross-linking agents. Cancer Res, 33: 1829-1836, 1973.
18. Dutrillaux B, Aurias A, Dutrillaux AM, et al. The cell cycle of lymphocytes in Fanconi's anemia. Hum Genet, 62: 327-332, 1982.
19. Joenje H, Arwert F, Eriksson AW, et al. Oxygen dependence of chromosomal aberrations in Fanconi's anaemia. Nature, 290: 142-143, 1981.
20. Marathi UK, Howell SR, Ashmun RA, et al. The Fanconi anemia complementation group C protein corrects DNA interstrand crosslink-specific apoptosis in HSC536N cells. Blood, 88: 2298-2305, 1996.
21. Stark R, Thierry D, Richard P, et al. Long-term bone marrow culture in Fanconi's anaemia. Br J Haematol 83: 554-559, 1993.
22. Leteurtre F, Li X, Guardiola P, et al. Accelerated telomere shortening and telomerase activation in Fanconi's anaemia. Br J Haematol, 105: 883-893, 1999.
23. Auerbach AD. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol, 21: 731-733, 1993.
24. Dokal I, Chase A, Morgan NV, et al. Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations. Br J Haematol, 93: 813-816, 1996.
25. Clarke AA, Marsh JCW, Gordon-Smith EC, et al. Molecular genetics and Fanconi anaemia: New insights into old problems. Br J Haematol, 103: 287-296, 1998.
26. Seyschab H, Friedl R, Sun Y, et al. Comparative evaluation of diepoxybutane B sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia. Blood, 85: 2233-2237, 1995.
27. Clarke AA, Philpott NJ, Gordon-Smith EC, et al. The sensitivity of Fanconi anaemia group C cells to apoptosis induced by mitomycin C is due to oxygen radical generation, not DNA cross-linking. Br J Haematol, 96: 240-247, 1997.
28. Ishida R and Buchwald M. Susceptibility of Fanconi's anemia lymphoblasts to DNA cross-linking and alkylating agents. Cancer Res, 42: 4000-4006, 1982.
29. Moustacchi E and Diatloff-Zito C. DNA semiconservative synthesis in normal and Fanconi anemia fibroblasts following treatment with 8-methoxypsoralen and near ultraviolet light or with x-rays. Hum Genet, 70: 236-242, 1985.
30. Duckworth-Rysiecki G, Cornish K, Clarke CA, et al. Identification of two complementation groups in Fanconi anemia. Somat Cell Mol Genet, 11: 35-41, 1985.
31. Strathdee CA, Duncan AMV, Buchwald M. Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nat Genet, 1: 196-198, 1992.
32. Joenje H, Oostra AB, Wijker M, et al. Evidence for at least eight Fanconi anemia genes. Am J Hum Genet, 61: 940-944, 1997.
33. Strathdee CA, Gavish H, Shannon WR, et al. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature, 356: 763-767, 1992.
34. The Fanconi Anaemia/Breast Cancer Consortium. Positional cloning of the Fanconi anaemia group A gene. Nat Genet, 14: 324-328, 1996.
35. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet, 14: 320-323, 1996.
36. de Winter JP, Waisfisz Q, Rooimans MA, et al. The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat Genet, 20: 281-283, 1998.
37. Kupfer GM, Naf D, Suliman A, et al. The Fanconi anemia proteins, FAA and FAC, interact to form a nuclear complex. Nat Genet, 17: 487-490, 1997.
38. Hoatlin ME, Christianson TA, Keeble WW, et al. The Fanconi anemia group C gene product is located in both the nucleus and cytoplasm of human cells. Blood, 91: 1418-1425, 1998.
39. Kupfer GM and D'Andrea AD. The effect of the Fanconi anemia polypeptide, FAC, upon p53 induction and G2 checkpoint regulation. Blood, 88: 1019-1025, 1996.
40. Kruyt FAE, Dijkmans LM, van den Berg TK, et al. Fanconi anemia genes act to suppress a cross-linker inducible p53-independent pathway in lymphoblastoid cell lines. Blood, 87: 938-948, 1996.
41. Heinrich MC, Hoatlin ME, Zigler AJ, et al. DNA cross-linker induced G2/M arrest in group C Fanconi anemia lymphoblasts reflects normal checkpoint function. Blood, 91: 275-287, 1998.
42. Kupfer GM, Yamashita T, Naf D, et al. The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. Blood, 90: 1047-1054, 1997.
43. Kruyt FA, Hoshino T, Liu JM, et al. Abnormal microsomal detoxification implicated in Fanconi anemia group C by interaction of the FAC protein with NADPH cytochrome P-450 reductase. Blood, 92: 3050-3056, 1998.
44. Segal G, Magenis R, Brown M, et al. Repression of the Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells. J Clin Invest, 94: 846-852, 1994.
45. Chen M, Tomkins D, Auerbach W, et al. Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anemia. Nat Genet, 12: 448-451, 1996.
46. Whitney MA, Royle G, Low MJ, et al. Germ cell defects and hematopoietic hypersensitivity to γ-interferon in mice with a targeted disruption of Fanconi anemia C gene. Blood, 88: 49-58, 1996.
47. Haneline LS, Broxmeyer HE, Cooper S, et al. Multiple inhibitory cytokines induce deregulated progenitor growth and apoptosis in hematopoietic cells from Fac-/-mice. Blood, 91: 4092-4098, 1998.
48. Heneveld M, Faulkner G, Royle G, et al. The pathogenesis of bone marrow failure in Fanconi anemia: The role of IFN-γ induced FAS expression. Blood, 88: 339a, 1996.
49. Young NS and Maciejewski J. The pathophysiology of acquired aplastic anemia. N Engl J Med, 336: 1365-1372, 1997.
50. Ball S, Gibson FM, Rizzo S, et al. Progressive telomere shortening in aplastic anaemia. Blood, 91: 3582-3592, 1998.
51. Wijker M, Morgan NV, Herterich S, et al. Heterogeneous spectrum of mutations in the Fanconi anemia group A gene. Eur J Hum Genet, 7: 52-59, 1999.
52. Morgan NV, Tipping AJ, Joenje H, et al. High frequency of large intragenic deletions in the Fanconi anaemia group A gene. Am J Hum Genet, 65: 1330-1341, 1999.
53. Yamashita T, Kupfer GM, Naf D, et al. The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation. Proc Natl Acad Sci USA, 95: 13085-13090, 1998.
54. Garcia-Higuera I, Kuag Y, D'Andrea AD. The molecular and cellular biology of Fanconi anemia. Curr Opin Hematol, 2: 83-88, 1999.
55. Waisfisz Q, de Winter JP, Kruyt FA, et al. A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA. Proc Natl Acad Sci USA, 96: 10320-10325, 1999.
56. Garcia-Higuera I, Kuang Y, Naf D, et al. Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. Mol Cell Biol, 19: 4866-4873, 1999.
57. de Winter JP, Rooimans MA, van der Weel L, et al. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet, 24: 15-16, 2000.
58. Lo Ten Foe JR, Kwee ML, Rooimans MA, et al. Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance. Eur J Hum Genet, 5: 137-148, 1997.
59. Waisfisz Q, Morgan NV, Savino M, et al. Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat Genet, 22: 379-383, 1999.
60. Walsh CE, Nienhuis AW, Samulski RJ, et al. Phenotypic correction of Fanconi anemia in human hematopoietic cells with a recombinant adeno-associated virus vector. J Clin Invest, 94: 1440-1448, 1994.
61. Liu JM, Kim S, Read EJ, et al. Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANCC). Hum Gene Ther, 10: 2337-2346, 1999.
62. Pittenger MF, Mackay AM, Beck SC, et al. Multilineage potential of adult human mesenchymal stem cells. Science, 284: 143-147, 1999.
63. Youssoufian H, Kruyt FAE, Li X. Protein replacement by receptor-mediated endocytosis corrects the sensitivity of Fanconi anemia group C cells to mitomycin C. Blood, 93: 363-369, 1999.
64. Zinsser F. Atropha cutis reticularis cum pigmentatione, dystrophia ungiumet leukoplakia oris. Ikonogr Dermatol (Hyoto), 5: 219-223, 1906.
65. Engman MF. A unique case of reticular pigmentation of the skin with atrophy. Arch Dermatol Syph, 13: 685-687, 1926.
66. Cole HN, Rauschkolb JC, Toomey J. Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris. Arch Dermatol Syph, 21: 71-95, 1930.
67. Drachtman RA and Alter BP. Dyskeratosis congenita. Dermatol Clin, 13: 33-39, 1995.
68. Dokal I. Dyskeratosis congenita: Recent advances and future directions. J Pediatr Hematol Oncol, 21: 344-350, 1999.
69. Sorrow JM and Hitch JM. Dyskeratosis congenita: First report of its occurrence in a female and a review of the literature. Arch Dermatol, 88: 340-347, 1963.
70. Tchou PK and Kohn T. Dyskeratosis congenita: An autosomal dominant disorder. J Am Acad Dermatol, 6: 1034-1039, 1982.
71. Gasparini G, Sambvani N, Guidarelli C, et al. Sindrome di Zinsser-Cole-Engman: A proposito di due casi a trasmissione autosomica dominante. G Ital Dermatol Venereol, 120: 429-433, 1985.
72. Wiedemann HP, McGuire J, Dwyer JM, et al. Progressive immune failure in dyskeratosis congenita. Report of an adult in whom Pneumocystis carinii and fatal disseminated candidiasis developed. Arch Intern Med, 144: 397-399, 1984.
73. Solder B, Weiss M, Jager A, et al. Dyskeratosis congenita: Multisystem disorder with special consideration of immunologic aspects. Clin Pediatr, 19: 32-38, 1998.
74. Berthou C, Devergie A, D'Agay MF, et al. Late vascular complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol, 79: 335-336, 1991.
75. Dokal I, Bungey J, Williamson P, et al. Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. Blood, 80: 3090-3096, 1992.
76. Forni GL, Melevendi C, Jappelli S, et al. Dyskeratosis congenita: Unusual presenting features within a kindred. Pediatr Hematol Oncol, 10: 145-149, 1993.
77. Knight S, Vulliamy T, Copplestone A, et al. Dyskeratosis Congenita (DC) Registry: Identification of new features of DC. Br J Haematol, 103: 990-996, 1998.
78. Rocha V, Devergie A, Socie G, et al. Unusual complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol, 103: 243-248, 1998.
79. Lau YL, Ha SY, Chan CF, et al. Bone marrow transplant for dyskeratosis congenita. Br J Haematol, 105: 571, 1999.
80. Langston AA, Sanders JE, Deeg HJ, et al. Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita. Br J Haematol, 92: 758-765, 1996.
81. Ghavamzadeh A, Alimoghadam K, Nasseri P, et al. Correction of bone marrow failure in dyskeratosis congenita by bone marrow transplantation. Bone Marrow Transplant, 23: 299-301, 1999.
82. Friedland M, Lutton JD, Spitzer R, et al. Dyskeratosis congenita with hypoplastic anemia: A stem cell defect. Am J Hematol, 20: 85-87, 1985.
83. Marsh CW, Will AJ, Hows JH, et al. 'Stem cell' origin of the hematopoietic defect in dyskeratosis congenita. Blood, 79: 3138-3144, 1992.
84. Morrison JG. Dyskeratosis congenita, two extremes. S Afr Med J, 48: 223-225, 1974.
85. Pai GS, Yan Y, DeBauche DM, et al. Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes and transformed lymphoblasts. Cytogenet Cell Genet, 52: 186-189, 1989.
86. DeBauche DM, Pai GS, Stanley WS. Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. Am J Hum Genet, 46: 350-357, 1990.
87. Coulthard S, Chase A, Pickard J, et al. Chromosome breakage analysis in dyskeratosis congenita peripheral blood lymphocytes. Br J Haematol, 102: 1162-1164, 1998.
88. Kehrer H and Krone W. Chromosome abnormalities in cell cultures derived from the leukoplakia of a female patient with dyskeratosis congenita. Am J Med Genet, 42: 217-218, 1992.
89. Demiroglu H, Alikasifoglu M, Dundar S. Dyskeratosis congenita with an unusual chromosomal abnormality. Br J Haematol, 97: 243-244, 1997.
90. Devriendt K, Matthijs G, Legius E, et al. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet, 60: 581-587, 1997.
91. Vulliamy TJ, Knight SW, Dokal I, et al. Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood, 90: 2213-2216, 1997.
92. Connor JM, Gatherer D, Gray FC, et al. Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet, 72: 348-351, 1986.
93. Knight SW, Vulliamy TJ, Heiss NS, et al. 1.4 Mb candidate gene region for X-linked dyskeratosis congenita defined by combined haplotype and X-chromosome inactivation analysis. J Med Genet, 35: 993-996, 1998.
94. Heiss NS, Knight SW, Vulliamy TJ, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet, 19: 32-38, 1998.
95. Knight SW, Vulliamy TJ, Heiss NS, et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet, 65: 50-58, 1999.
96. Jiang W, Middleton K, Yoon HJ, et al. An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules. Mol Cell Biol, 13: 4884-4893, 1993.
97. Meier UT and Blobel G. NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria. J Cell Biol, 127: 1505-1514, 1994.
98. Philips B, Billin AN, Cadwell C, et al. The Nop60B gene of Drosophila encodes an essential nucleolar protein that functions in yeast. Mol Gen Genet, 260: 20-29, 1998.
99. Giordano E, Peluso I, Senger S, et al. Minifly, a Drosophila gene required for ribosome biogenesis. J Cell Biol, 144: 1123-1133, 1999.
100. Koonin EV. Pseudouridine synthases: Four families of enzymes containing a putative uridine-binding motif also conserved in dUTPases and dCTP deaminases. Nucleic Acids Research, 24: 2411-2415, 1996.
101. Cadwell C, Yoon HJ, Zebarjadian Y, et al. The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3. Mol Cell Biol, 17: 6175-6178, 1997.
102. Lafontaine DLJ, Bousquet-Antonelli C, Henry Y, et al. The box H+ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase. Genes Dev, 12: 527-537, 1998.
103. Zebarjadian Y, King T, Fournier MJ, et al. Point mutations in Yeast CBF5 can abolish in vivo pseudouridylation of rRNA. Mol Cell Biol, 19: 7461-7472, 1999.
104. Youssoufian H, Gharibyan V, Qatanani M. Analysis of epitope-tagged forms of the dyskeratosis congenita protein (dyskerin): Identification of a nuclear localization signal. Blood Cells Mol Dis, 25: 305-309, 1999.
105. Heiss NS, Girod A, Saowsky R, et al. Dyskerin localises to the nucleolus and its mislocalisation is unlikely to play a role in the pathogenesis of dyskeratosis congenita. Hum Mol Genet, 8: 2515-2524, 1999.
106. Hoyeraal HM, Lamvik J, Moe PJ. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand, 59: 185-191, 1970.
107. Hreidarsson S, Kristjansson K, Johannesson G, et al. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr Scand, 77: 773-775, 1988.
108. Aalfs CM, van den Berg H, Barth PG, et al. The Hoyeraal-Hreidarsson syndrome: The fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. Eur J Pediatr, 154: 304-308, 1995.
109. Knight SW, Heiss NS, Vulliamy TJ, et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol, 107: 335-339, 1999.
110. Mahmood F, King MD, Smyth OP, et al. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. Neuropediatrics, 29: 302-306, 1998.
111. Ivker RA, Woosley J, Resnick SD. DCG or chronic graft-versus-host disease? A diagnostic dilemma in a child eight years after bone marrow transplantation for aplastic anemia. Pediatr Dermatol, 10: 362-365, 1993.
112. Ni J, Tien AL, Fournier MJ. Small nucleolar RNAs direct site-specific synthesis of pseudouridine in ribosome RNA. Cell, 89: 565-573, 1997.
113. Henras A, Henry Y, Bousquet-Antonelli C, et al. Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs. EMBOJ, 17: 7078-7090, 1998.
114. Watkins NJA, Gottschalk G, Neubauer B, et al. Cbf5p, a potential pseudouridine synthase, and Nhp2p, a putative RNA-binding protein, are present together with Garlp in all H BOX/ACA-multi snoRNPs and constitute a common bipartite structure. RNA, 4: 1549-1568, 1998.
115. Mitchell JR, Cheng J, Collins K. A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end. Mol Cell Biol, 19: 567-576, 1999.
116. Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature, 402: 551-555, 1999.
117. Ling NS, Fenske NA, Julius RL, et al. Dyskeratosis congenita in a girl simulating chronic graft-vs-host disease. Arch Dermatol, 21: 1424-1428, 1985.
118. Luzzatto L and Karadimitris A. Dyskeratosis and ribosomal rebellion. Nat Genet, 19: 6-7, 1998.
119. Josephs HW. Anaemia of infancy and early childhood. Medicine, 15: 307, 1936.
120. Diamond LK and Blackfan KD. Hypoplastic anemia. Am J Dis Child, 56: 464-467, 1938.
121. Janov A, Leong T, Nathan D, et al. Diamond-Blackfan anemia, natural history and sequelae of treatment. Medicine, 75: 77-87, 1996.
122. Willig T-N, Ball SE, Tchernia G. Current concepts and issues in Diamond-Blackfan anemia. Curr Opin Hematol, 5: 109-115, 1998.
123. Ball SE, McGuckin CP, Jenkins G, et al. Diamond-Blackfan anaemia in the UK. Analysis of 80 cases from a 20-year birth cohort. Br J Haematol, 94: 645-653, 1996.
124. Giri N, Kang E, Tisdale JF, et al. Clinical and laboratory evidence for a trilineage haematopoietic defect in patients with refractory Diamond-Blackfan anaemia. Br J Haematol, 108: 167-175, 2000.
125. Lipton JM, Kudisch M, Cross R, et al. Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia. Blood, 67: 962-968, 1986.
126. Halperin DS, Estrov Z, Freedman MH. Diamond-Blackfan anemia: Promotion of marrow erythropoiesis in vitro by recombinant interleukin-3. Blood, 73: 1168-1174, 1989.
127. McGuckin CP, Ball SE, Gordon-Smith EC. Diamond-Blackfan anaemia: Three patterns of in vitro response to haematopoietic growth factors. Br J Haematol, 89: 457, 1995.
128. Gustavsson P, Skeppner G, Johansson B, et al. Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation. J Med Genet, 34: 779-782, 1997.
129. Gustavsson P, Willig T-N, van Haeringen A, et al. Diamond-Blackfan anaemia: Genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb. Nat Genet, 16: 368-371, 1997.
130. Draptchinskaia N, Gustavsson P, Anderson B, et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet, 21: 169-175, 1999.
131. Willig T-N, Draptchinskaia N, Dianzani I, et al. Mutations in ribosomal protein S19 gene and Diamond-Blackfan anemia: Wide variations in phenotypic expression. Blood, 12: 4294-4306, 1999.
132. Gazda H, Lipton JM, Niemeyer CM, et al. Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.2-23.1 and for non-19q non-8p disease. Blood, 94 (Suppl. 1): 673a, 1999.